Canonical Allele Identifier: CA2654788866

Gene: AIRE

Linked Data

• gnomAD v4: 21-44286422-CGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44286426_44286428del , CM000683.2:g.44286426_44286428del	GRCh38
NC_000021.8:g.45706309_45706311del , CM000683.1:g.45706309_45706311del	GRCh37
NC_000021.7:g.44530737_44530739del	NCBI36
NG_009556.1:g.5547_5549del , LRG_18:g.5547_5549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.133-131_133-129del MANE Select	ENSP00000291582.5:n.133-131_133-129del
ENST00000291582.5:c.133-131_133-129del	ENSP00000291582.5:n.133-131_133-129del
ENST00000527919.5:n.294-131_294-129del
ENST00000530812.5:n.302-131_302-129del
NM_000383.3:c.133-131_133-129del	NP_000374.1:n.133-131_133-129del
XM_011529551.1:c.133-131_133-129del	XP_011527853.1:n.133-131_133-129del
NM_000383.4:c.133-131_133-129del MANE Select	NP_000374.1:n.133-131_133-129del